Varaico: Literature-Extracted Genetic Variants

Gene:MTTP
Variant:p.D281_S282insFs
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MTTP

NM_001386140.1:p.D281_S282insFs

Associated Papers

Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia.

Chaudhry A et al.

Circulation. Genomic and Precision Medicine, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."